Variant report

Variant	rs12993351
Chromosome Location	chr2:113699228-113699229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113694655..113699559-chr2:113699730..113703257,4	MCF-7	breast:
2	chr2:113642230..113643259-chr2:113698990..113700080,4	MCF-7	breast:
3	chr2:113699183..113701055-chr2:113704655..113706324,2	MCF-7	breast:
4	chr2:113506923..113507895-chr2:113698818..113699884,5	MCF-7	breast:
5	chr2:113506982..113507851-chr2:113699030..113699972,2	K562	blood:
6	chr2:113031587..113033869-chr2:113697518..113699436,2	K562	blood:
7	chr2:113649179..113649918-chr2:113699043..113699938,2	MCF-7	breast:
8	chr2:113357284..113358273-chr2:113699007..113699673,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11123151	0.87[AMR][1000 genomes]
rs11683383	0.84[ASN][1000 genomes]
rs11690185	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690539	0.81[AMR][1000 genomes]
rs11690879	0.81[AMR][1000 genomes]
rs11695077	0.84[ASN][1000 genomes]
rs11696039	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893071	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12053091	0.81[AMR][1000 genomes]
rs12105482	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12464758	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466697	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12467810	0.91[ASN][1000 genomes]
rs12467847	0.91[ASN][1000 genomes]
rs12470439	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471839	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12477661	0.82[AMR][1000 genomes]
rs12479173	0.83[AMR][1000 genomes]
rs12614316	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12616801	0.80[AMR][1000 genomes]
rs12617864	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12618418	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12623837	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995439	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021862	0.83[AMR][1000 genomes]
rs13026837	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317913	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2723152	0.82[AMR][1000 genomes]
rs34027384	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899562	0.83[AMR][1000 genomes]
rs35880601	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4077216	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58788639	0.82[AMR][1000 genomes]
rs66591921	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716380	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6720230	0.82[AMR][1000 genomes]
rs6722962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723197	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723582	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6733001	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733003	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67721272	0.81[AMR][1000 genomes]
rs67995749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv979388	chr2:113696105-113705504	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113697000-113699800	Enhancers	Liver	Liver
2	chr2:113697200-113699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:113697400-113699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:113697400-113699600	Weak transcription	Gastric	stomach
5	chr2:113697600-113699400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:113697600-113700400	Enhancers	Colon Smooth Muscle	Colon
7	chr2:113698200-113699800	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:113698200-113700000	Enhancers	Stomach Mucosa	stomach
9	chr2:113699000-113699600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:113699000-113699800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:113699000-113700800	Enhancers	NHEK	skin
12	chr2:113699000-113701000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:113699200-113699600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:113699200-113699600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:113699200-113700000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:113699200-113700600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:113699200-113700600	Enhancers	HMEC	breast

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